Sökning: "Zandra Körner"

Hittade 1 avhandling innehållade orden Zandra Körner.

1. 1. Congenital muscular dystrophy with laminin α2 chain-deficiency. Initiation of disease and development of treatment

   Författare :Zandra Körner; Muskelbiologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; muskeldystrofi; Muscular dystrophy; Autophagy; proteasome; Laminin; MDC1A;

   Sammanfattning : Congenital muscle dystrophy type 1A (MDC1A) is a muscle disease caused bymutations in the LAMA2 gene, encoding the basement membrane protein lamininα2 chain. MDC1A patients exhibit neonatal onset of muscle weakness, progressivemuscle wasting and hypotonia, joint contractures that mostly affect elbows, hips,knees and ankles along with scoliosis and delayed motor milestones. LÄS MER